UniProt:P55075 FGF8

chain
  • signal peptide:1-22
  • chain:23-233
checksum 4C1EAF932A3A211D
comment
  • FUNCTION Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111).SUBUNIT Monomer. Homodimer. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors.SUBCELLULAR LOCATION Additional isoforms seem to exist.DEVELOPMENTAL STAGE In adults expression is restricted to the gonads.DISEASE The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in FGF8 as well as in other HH-associated genes including FGFR1 (PubMed:23643382).DISEASE The gene represented in this entry is involved in disease pathogenesis. Duplications encompassing the FGF8 locus have been found in unrelated families with isolated bilateral hypoplasia of the femoral and pelvic bone. The phenotype is most likely the result of position effects causing altered FGF8 expression rather than gene dosage.SIMILARITY Belongs to the heparin-binding growth factors family.
created [InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35
crossReference
databaseName UniProt
dbId 404429
description
  • recommendedName: Fibroblast growth factor 8 shortName: FGF-8 alternativeName: Androgen-induced growth factor shortName: AIGF alternativeName: Heparin-binding growth factor 8 shortName: HBGF-8
displayName UniProt:P55075 FGF8
geneName
  • FGF8
  • AIGF
identifier P55075
isSequenceChanged false
keyword
  • 3D-structure
  • Alternative splicing
  • Developmental protein
  • Differentiation
  • Disease variant
  • Glycoprotein
  • Growth factor
  • Hypogonadotropic hypogonadism
  • Kallmann syndrome
  • Mitogen
  • Proteomics identification
  • Reference proteome
  • Secreted
  • Signal
modified [InstanceEdit:9983091] Weiser, Joel, 2026-02-20
moleculeType Protein
name
  • FGF8
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • FGF8_HUMAN
  • A1A514
  • Q14915
  • Q15766
sequenceLength 233
species [Species:48887] Homo sapiens
stId uniprot:P55075
url http://purl.uniprot.org/uniprot/P55075
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